rs8110862

Variant names:

• chr19-15032397-C-A
• rs8110862

Your query was ambiguous. Multiple possible variants found:

• chr19-15032397-C-A
• chr19-15032397-C-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.672 in 151,866 control chromosomes in the GnomAD database, including 34,416 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.67 (34416 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.571

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.743 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.672 AC: 101921 AN: 151748 Hom.: 34369 Cov.: 30

Gnomad AFR AF: 0.653

Gnomad AMI AF: 0.618

Gnomad AMR AF: 0.754

Gnomad ASJ AF: 0.779

Gnomad EAS AF: 0.650

Gnomad SAS AF: 0.587

Gnomad FIN AF: 0.637

Gnomad MID AF: 0.715

Gnomad NFE AF: 0.672

Gnomad OTH AF: 0.698

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.672 AC: 102020 AN: 151866 Hom.: 34416 Cov.: 30 AF XY: 0.672 AC XY: 49833 AN XY: 74186

Gnomad4 AFR AF: 0.653

Gnomad4 AMR AF: 0.754

Gnomad4 ASJ AF: 0.779

Gnomad4 EAS AF: 0.651

Gnomad4 SAS AF: 0.587

Gnomad4 FIN AF: 0.637

Gnomad4 NFE AF: 0.672

Gnomad4 OTH AF: 0.701

Alfa AF: 0.679 Hom.: 4380

Bravo AF: 0.681

Asia WGS AF: 0.655 AC: 2272 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.4
DANN	Benign	0.79

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs8110862; hg19: chr19-15143208;